RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164084472
T1 Schindler Syndrome
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164084472
RD 2024/10/03
AB A  very  rare  autosomal  recessive  lysosomal  storage  disease  characterized  by  accumulation  of  glycosphingolipids  in  many  tissues,  which  lead  to  neurological  and  ophthalmic  lesions  and  to  frequent,  severe,  pulmonary  infections.